Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
6453 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Intersectin 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
ITSN1 |
SynonymsGene synonyms aliases
|
ITSN, SH3D1A, SH3P17 |
ChromosomeChromosome number
|
21 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
21q22.11 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
The protein encoded by this gene is a cytoplasmic membrane-associated protein that indirectly coordinates endocytic membrane traffic with the actin assembly machinery. In addition, the encoded protein may regulate the formation of clathrin-coated vesicles |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs755276554 |
G>A,T |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0005085 |
Function |
Guanyl-nucleotide exchange factor activity |
NAS |
9799604 |
GO:0005509 |
Function |
Calcium ion binding |
NAS |
9799604 |
GO:0005515 |
Function |
Protein binding |
IPI |
10064583, 12006984, 12812986, 16696976, 16914641, 18654987, 20448150, 20946875, 21900206, 29887380, 31413325, 32203420 |
GO:0005635 |
Component |
Nuclear envelope |
IEA |
|
GO:0005737 |
Component |
Cytoplasm |
IBA |
21873635 |
GO:0005829 |
Component |
Cytosol |
TAS |
|
GO:0005886 |
Component |
Plasma membrane |
IBA |
21873635 |
GO:0005886 |
Component |
Plasma membrane |
IDA |
20946875 |
GO:0005905 |
Component |
Clathrin-coated pit |
IBA |
21873635 |
GO:0005905 |
Component |
Clathrin-coated pit |
IDA |
20946875 |
GO:0005905 |
Component |
Clathrin-coated pit |
IDA |
29887380 |
GO:0006887 |
Process |
Exocytosis |
IEA |
|
GO:0006897 |
Process |
Endocytosis |
IBA |
21873635 |
GO:0007186 |
Process |
G protein-coupled receptor signaling pathway |
TAS |
|
GO:0007420 |
Process |
Brain development |
IEA |
|
GO:0015031 |
Process |
Protein transport |
IEA |
|
GO:0016032 |
Process |
Viral process |
IEA |
|
GO:0016197 |
Process |
Endosomal transport |
IBA |
21873635 |
GO:0030027 |
Component |
Lamellipodium |
IEA |
|
GO:0034613 |
Process |
Cellular protein localization |
IMP |
29887380 |
GO:0035556 |
Process |
Intracellular signal transduction |
IEA |
|
GO:0042734 |
Component |
Presynaptic membrane |
IBA |
21873635 |
GO:0043025 |
Component |
Neuronal cell body |
IEA |
|
GO:0043065 |
Process |
Positive regulation of apoptotic process |
TAS |
|
GO:0043197 |
Component |
Dendritic spine |
IEA |
|
GO:0048013 |
Process |
Ephrin receptor signaling pathway |
TAS |
|
GO:0050790 |
Process |
Regulation of catalytic activity |
IEA |
|
GO:0051056 |
Process |
Regulation of small GTPase mediated signal transduction |
TAS |
|
GO:0055037 |
Component |
Recycling endosome |
IEA |
|
GO:0060090 |
Function |
Molecular adaptor activity |
IBA |
21873635 |
GO:0060090 |
Function |
Molecular adaptor activity |
IDA |
20946875 |
GO:0060124 |
Process |
Positive regulation of growth hormone secretion |
IEA |
|
GO:0060999 |
Process |
Positive regulation of dendritic spine development |
IEA |
|
GO:0061024 |
Process |
Membrane organization |
TAS |
|
GO:0070064 |
Function |
Proline-rich region binding |
IPI |
20946875 |
GO:0097440 |
Component |
Apical dendrite |
IEA |
|
GO:0097708 |
Component |
Intracellular vesicle |
IBA |
21873635 |
GO:0098793 |
Component |
Presynapse |
IEA |
|
GO:0098871 |
Component |
Postsynaptic actin cytoskeleton |
IEA |
|
GO:0098978 |
Component |
Glutamatergic synapse |
IEA |
|
GO:0150007 |
Process |
Clathrin-dependent synaptic vesicle endocytosis |
IBA |
21873635 |
GO:1905274 |
Process |
Regulation of modification of postsynaptic actin cytoskeleton |
IEA |
|
GO:2001288 |
Process |
Positive regulation of caveolin-mediated endocytosis |
IEA |
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
Q15811 |
Protein name |
Intersectin-1 (SH3 domain-containing protein 1A) (SH3P17) |
Protein function |
Adapter protein that provides a link between the endocytic membrane traffic and the actin assembly machinery (PubMed:11584276, PubMed:29887380). Acts as a guanine nucleotide exchange factor (GEF) for CDC42, and thereby stimulates actin nucleatio |
PDB |
1KI1
,
2KGR
,
2KHN
,
3FIA
,
3QBV
,
4IIM
,
5HZI
,
5HZJ
,
5HZK
,
6GBU
,
6H5T
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF12763 |
EF-hand_4 |
16 → 108 |
Cytoskeletal-regulatory complex EF hand |
Family |
PF12763 |
EF-hand_4 |
216 → 312 |
Cytoskeletal-regulatory complex EF hand |
Family |
PF14604 |
SH3_9 |
747 → 802 |
Variant SH3 domain |
Domain |
PF16617 |
INTAP |
803 → 917 |
|
Disordered |
PF00018 |
SH3_1 |
919 → 963 |
SH3 domain |
Domain |
PF07653 |
SH3_2 |
1007 → 1057 |
Variant SH3 domain |
Domain |
PF07653 |
SH3_2 |
1078 → 1136 |
Variant SH3 domain |
Domain |
PF00018 |
SH3_1 |
1161 → 1206 |
SH3 domain |
Domain |
PF00621 |
RhoGEF |
1241 → 1421 |
RhoGEF domain |
Domain |
PF16652 |
PH_13 |
1440 → 1593 |
Pleckstrin homology domain |
Domain |
PF00168 |
C2 |
1596 → 1696 |
C2 domain |
Domain |
|
Sequence |
|
Sequence length |
1721 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Prostate cancer |
Malignant neoplasm of prostate |
rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 |
29610475 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Prostatic neoplasms |
Prostatic Neoplasms |
|
29610475 |
|